Deisenhammer F, Egg R, Giovannoni G, Hemmer B, Petzold A, Sellebjerg F, Teunissen C, Tumani H
Clinical Department of Neurology, Innsbruck Medical University, Innsbruck, Austria.
Eur J Neurol. 2009 Jun;16(6):760-70. doi: 10.1111/j.1468-1331.2009.02595.x.
We reviewed the literature for disease-specific markers in cerebrospinal fluid (CSF) and evaluated their diagnostic and prognostic relevance in neurological diseases. High tau protein in combination with low amyloid beta levels has a high sensitivity (80%) and specificity (90%) for Alzheimer's disease (AD) against normal aging and can predict conversion of mild cognitive impairment to AD. The detection of 14-3-3 has a high sensitivity (80-90%) and specificity (90%) for the diagnosis of CJD. Low or undetectable CSF hypocretin-1 (orexin-1) levels constitute a diagnostic biomarker for narcolepsy with cataplexy. Detection of beta-2-transferrin indicates CSF contamination in oto- and rhinorrhoe with a sensitivity of > 79% at a specificity of 95% similar to the beta-trace protein (sensitivity > 90%, specificity 100%). However, beta-trace protein is faster and cheaper to perform. Possible future biomarkers are: elevated levels of vascular endothelial growth factor are relatively sensitive (51-100%) and specific (73-100%) for leptomeningeal metastases from solid tumors and are associated with a poor prognosis in this condition. Elevated CSF neurofilament (Nf) levels probably reflect acute neuronal degeneration. The prognostic value of CSF Nf levels is highest in acute conditions such as subarachnoid hemorrhage, acute optic neuritis and neuromyelitis optica.
我们查阅了有关脑脊液（CSF）中疾病特异性标志物的文献，并评估了它们在神经系统疾病中的诊断和预后相关性。高tau蛋白与低β淀粉样蛋白水平相结合，对阿尔茨海默病（AD）相对于正常衰老具有较高的敏感性（80%）和特异性（90%），并且可以预测轻度认知障碍向AD的转化。检测14-3-3对克雅氏病（CJD）的诊断具有较高的敏感性（80-90%）和特异性（90%）。脑脊液中低水平或无法检测到的下丘脑分泌素-1（食欲素-1）是发作性睡病伴猝倒的诊断生物标志物。检测β-2-转铁蛋白可提示耳漏和鼻漏中的脑脊液污染，其敏感性>79%，特异性为95%，与β-微量蛋白相似（敏感性>90%，特异性100%）。然而，β-微量蛋白检测更快且成本更低。未来可能的生物标志物包括：血管内皮生长因子水平升高对实体瘤软脑膜转移相对敏感（51-100%）且具有特异性（73-100%），并与这种情况下的不良预后相关。脑脊液神经丝（Nf）水平升高可能反映急性神经元变性。脑脊液Nf水平的预后价值在蛛网膜下腔出血、急性视神经炎和视神经脊髓炎等急性疾病中最高。
